Beckwith-Wiedemann syndrome

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Beckwith-Wiedemann syndrome

Metopic ridge

• Large newborn (LGA, large for gestational age)
• Large tongue, sometimes protruding
• Large, prominent eyes
• Creases in ear lobes
• External ear (pinna) abnormalities and low-set ears
• Abdominal wall defect: umbilical hernia or omphalocele
• Separated abdominal muscles (diastasis recti)
• Undescended testicles (cryptorchidism)
• Low blood sugar (hypoglycemia)
• Poor feeding
• Lethargy
• Seizures
• Enlargement of some organs and tissues

The signs of Beckwith-Wiedemann syndrome include:

• Low blood sugar (hypoglycemia)
• Enlarged kidneys, liver, and spleen
• Enlarged fontanelle (soft spot)
• A ridge in the forehead caused by premature closure of the bones (metopic ridge)
• Large size (90^th percentile)

Tests for Beckwith-Wiedemann syndrome include:

• X-ray of the long bones
• Blood tests for low sugar and other abnormalities
• Ultrasound of the abdomen
• X-ray of the abdomen
• MRI or CT scan of the abdomen
• Chromosomal studies for abnormalities in chromosome 11

Review Date: 10/25/2006
Reviewed By: Daniel Rauch, M.D., FAAP, Director, Pediatric Hospitalist Program, Associate Professor of Pediatrics, NYU School of Medicine, New York, NY. Review provided by VeriMed Healthcare Network.